Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.47206012G>ACA412801418UBA1c.1640G>A (p.Ser547Asn)
n.465-66G>A
c.1658G>A (p.Ser553Asn)
c.1724G>A (p.Ser575Asn)
c.1682G>A (p.Ser561Asn)
n.216-662C>T
c.1793G>A (p.Ser598Asn)
n.284-662C>T
Xg.47206012G>CCA412801419UBA1c.1640G>C (p.Ser547Thr)
n.465-66G>C
c.1658G>C (p.Ser553Thr)
c.1724G>C (p.Ser575Thr)
c.1682G>C (p.Ser561Thr)
n.216-662C>G
c.1793G>C (p.Ser598Thr)
n.284-662C>G
Xg.47206012G>TCA412801422UBA1c.1640G>T (p.Ser547Ile)
n.465-66G>T
c.1658G>T (p.Ser553Ile)
c.1724G>T (p.Ser575Ile)
c.1682G>T (p.Ser561Ile)
n.216-662C>A
c.1793G>T (p.Ser598Ile)
n.284-662C>A
Xg.47206013C>ACA412801425UBA1c.1641C>A (p.Ser547Arg)
n.465-65C>A
c.1659C>A (p.Ser553Arg)
c.1725C>A (p.Ser575Arg)
c.1683C>A (p.Ser561Arg)
n.216-663G>T
c.1794C>A (p.Ser598Arg)
n.284-663G>T
Xg.47206013C>GCA412801436UBA1c.1641C>G (p.Ser547Arg)
n.465-65C>G
c.1659C>G (p.Ser553Arg)
c.1725C>G (p.Ser575Arg)
c.1683C>G (p.Ser561Arg)
n.216-663G>C
c.1794C>G (p.Ser598Arg)
n.284-663G>C
 gnomAD v4
Xg.47206013C>TCA516351757UBA1c.1641C>T (p.Ser547=)
n.465-65C>T
c.1659C>T (p.Ser553=)
c.1725C>T (p.Ser575=)
c.1683C>T (p.Ser561=)
n.216-663G>A
c.1794C>T (p.Ser598=)
n.284-663G>A
Xg.47206014C>ACA412801439UBA1c.1642C>A (p.His548Asn)
n.465-64C>A
c.1660C>A (p.His554Asn)
c.1726C>A (p.His576Asn)
c.1684C>A (p.His562Asn)
n.216-664G>T
c.1795C>A (p.His599Asn)
n.284-664G>T
Xg.47206014C>GCA412801448UBA1c.1642C>G (p.His548Asp)
n.465-64C>G
c.1660C>G (p.His554Asp)
c.1726C>G (p.His576Asp)
c.1684C>G (p.His562Asp)
n.216-664G>C
c.1795C>G (p.His599Asp)
n.284-664G>C
Xg.47206014C>TCA412801450UBA1c.1642C>T (p.His548Tyr)
n.465-64C>T
c.1660C>T (p.His554Tyr)
c.1726C>T (p.His576Tyr)
c.1684C>T (p.His562Tyr)
n.216-664G>A
c.1795C>T (p.His599Tyr)
n.284-664G>A
Xg.47206015A>CCA412801460UBA1c.1643A>C (p.His548Pro)
n.465-63A>C
c.1661A>C (p.His554Pro)
c.1727A>C (p.His576Pro)
c.1685A>C (p.His562Pro)
n.216-665T>G
c.1796A>C (p.His599Pro)
n.284-665T>G
Xg.47206015A>GCA412801456UBA1c.1643A>G (p.His548Arg)
n.465-63A>G
c.1661A>G (p.His554Arg)
c.1727A>G (p.His576Arg)
c.1685A>G (p.His562Arg)
n.216-665T>C
c.1796A>G (p.His599Arg)
n.284-665T>C
Xg.47206015A>TCA412801454UBA1c.1643A>T (p.His548Leu)
n.465-63A>T
c.1661A>T (p.His554Leu)
c.1727A>T (p.His576Leu)
c.1685A>T (p.His562Leu)
n.216-665T>A
c.1796A>T (p.His599Leu)
n.284-665T>A
Xg.47206016C>ACA412801465UBA1c.1644C>A (p.His548Gln)
n.465-62C>A
c.1662C>A (p.His554Gln)
c.1728C>A (p.His576Gln)
c.1686C>A (p.His562Gln)
n.216-666G>T
c.1797C>A (p.His599Gln)
n.284-666G>T
Xg.47206016C>GCA412801466UBA1c.1644C>G (p.His548Gln)
n.465-62C>G
c.1662C>G (p.His554Gln)
c.1728C>G (p.His576Gln)
c.1686C>G (p.His562Gln)
n.216-666G>C
c.1797C>G (p.His599Gln)
n.284-666G>C
 gnomAD v4
Xg.47206016C>TCA516351759UBA1c.1644C>T (p.His548=)
n.465-62C>T
c.1662C>T (p.His554=)
c.1728C>T (p.His576=)
c.1686C>T (p.His562=)
n.216-666G>A
c.1797C>T (p.His599=)
n.284-666G>A
Xg.47206017C>ACA412801467UBA1c.1645C>A (p.Gln549Lys)
n.465-61C>A
c.1663C>A (p.Gln555Lys)
c.1729C>A (p.Gln577Lys)
c.1687C>A (p.Gln563Lys)
n.216-667G>T
c.1798C>A (p.Gln600Lys)
n.284-667G>T
Xg.47206017C>GCA412801468UBA1c.1645C>G (p.Gln549Glu)
n.465-61C>G
c.1663C>G (p.Gln555Glu)
c.1729C>G (p.Gln577Glu)
c.1687C>G (p.Gln563Glu)
n.216-667G>C
c.1798C>G (p.Gln600Glu)
n.284-667G>C
Xg.47206017C>TCA412801469UBA1c.1645C>T (p.Gln549Ter)
n.465-61C>T
c.1663C>T (p.Gln555Ter)
c.1729C>T (p.Gln577Ter)
c.1687C>T (p.Gln563Ter)
n.216-667G>A
c.1798C>T (p.Gln600Ter)
n.284-667G>A
Xg.47206018A>CCA412801470UBA1c.1646A>C (p.Gln549Pro)
n.465-60A>C
c.1664A>C (p.Gln555Pro)
c.1730A>C (p.Gln577Pro)
c.1688A>C (p.Gln563Pro)
n.216-668T>G
c.1799A>C (p.Gln600Pro)
n.284-668T>G
Xg.47206018A>GCA412801472UBA1c.1646A>G (p.Gln549Arg)
n.465-60A>G
c.1664A>G (p.Gln555Arg)
c.1730A>G (p.Gln577Arg)
c.1688A>G (p.Gln563Arg)
n.216-668T>C
c.1799A>G (p.Gln600Arg)
n.284-668T>C
Xg.47206018A>TCA412801475UBA1c.1646A>T (p.Gln549Leu)
n.465-60A>T
c.1664A>T (p.Gln555Leu)
c.1730A>T (p.Gln577Leu)
c.1688A>T (p.Gln563Leu)
n.216-668T>A
c.1799A>T (p.Gln600Leu)
n.284-668T>A
Xg.47206019G>ACA516351763UBA1c.1647G>A (p.Gln549=)
n.465-59G>A
c.1665G>A (p.Gln555=)
c.1731G>A (p.Gln577=)
c.1689G>A (p.Gln563=)
n.216-669C>T
c.1800G>A (p.Gln600=)
n.284-669C>T
Xg.47206019G>CCA412801495UBA1c.1647G>C (p.Gln549His)
n.465-59G>C
c.1665G>C (p.Gln555His)
c.1731G>C (p.Gln577His)
c.1689G>C (p.Gln563His)
n.216-669C>G
c.1800G>C (p.Gln600His)
n.284-669C>G
Xg.47206019G>TCA412801500UBA1c.1647G>T (p.Gln549His)
n.465-59G>T
c.1665G>T (p.Gln555His)
c.1731G>T (p.Gln577His)
c.1689G>T (p.Gln563His)
n.216-669C>A
c.1800G>T (p.Gln600His)
n.284-669C>A
Xg.47206020A>CCA412801504UBA1c.1648A>C (p.Asn550His)
n.465-58A>C
c.1666A>C (p.Asn556His)
c.1732A>C (p.Asn578His)
c.1690A>C (p.Asn564His)
n.216-670T>G
c.1801A>C (p.Asn601His)
n.284-670T>G
Xg.47206020A>GCA412801508UBA1c.1648A>G (p.Asn550Asp)
n.465-58A>G
c.1666A>G (p.Asn556Asp)
c.1732A>G (p.Asn578Asp)
c.1690A>G (p.Asn564Asp)
n.216-670T>C
c.1801A>G (p.Asn601Asp)
n.284-670T>C
Xg.47206020A>TCA412801511UBA1c.1648A>T (p.Asn550Tyr)
n.465-58A>T
c.1666A>T (p.Asn556Tyr)
c.1732A>T (p.Asn578Tyr)
c.1690A>T (p.Asn564Tyr)
n.216-670T>A
c.1801A>T (p.Asn601Tyr)
n.284-670T>A
Xg.47206021A>CCA412801515UBA1c.1649A>C (p.Asn550Thr)
n.465-57A>C
c.1667A>C (p.Asn556Thr)
c.1733A>C (p.Asn578Thr)
c.1691A>C (p.Asn564Thr)
n.216-671T>G
c.1802A>C (p.Asn601Thr)
n.284-671T>G
Xg.47206021A>GCA412801521UBA1c.1649A>G (p.Asn550Ser)
n.465-57A>G
c.1667A>G (p.Asn556Ser)
c.1733A>G (p.Asn578Ser)
c.1691A>G (p.Asn564Ser)
n.216-671T>C
c.1802A>G (p.Asn601Ser)
n.284-671T>C
Xg.47206021A>TCA412801517UBA1c.1649A>T (p.Asn550Ile)
n.465-57A>T
c.1667A>T (p.Asn556Ile)
c.1733A>T (p.Asn578Ile)
c.1691A>T (p.Asn564Ile)
n.216-671T>A
c.1802A>T (p.Asn601Ile)
n.284-671T>A
Xg.47206022C>ACA412801523UBA1c.1650C>A (p.Asn550Lys)
n.465-56C>A
c.1668C>A (p.Asn556Lys)
c.1734C>A (p.Asn578Lys)
c.1692C>A (p.Asn564Lys)
n.216-672G>T
c.1803C>A (p.Asn601Lys)
n.284-672G>T
Xg.47206022C>GCA412801525UBA1c.1650C>G (p.Asn550Lys)
n.465-56C>G
c.1668C>G (p.Asn556Lys)
c.1734C>G (p.Asn578Lys)
c.1692C>G (p.Asn564Lys)
n.216-672G>C
c.1803C>G (p.Asn601Lys)
n.284-672G>C
Xg.47206022C>TCA516351767UBA1c.1650C>T (p.Asn550=)
n.465-56C>T
c.1668C>T (p.Asn556=)
c.1734C>T (p.Asn578=)
c.1692C>T (p.Asn564=)
n.216-672G>A
c.1803C>T (p.Asn601=)
n.284-672G>A
Xg.47206023C>ACA412801528UBA1c.1651C>A (p.Arg551Ser)
n.465-55C>A
c.1669C>A (p.Arg557Ser)
c.1735C>A (p.Arg579Ser)
c.1693C>A (p.Arg565Ser)
n.216-673G>T
c.1804C>A (p.Arg602Ser)
n.284-673G>T
Xg.47206023C=CA2427845510UBA1c.1651C= (p.Arg551=)
n.465-55C=
c.1669C= (p.Arg557=)
c.1735C= (p.Arg579=)
c.1693C= (p.Arg565=)
n.216-673G=
c.1804C= (p.Arg602=)
n.284-673G=
Xg.47206023C>GCA412801529UBA1c.1651C>G (p.Arg551Gly)
n.465-55C>G
c.1669C>G (p.Arg557Gly)
c.1735C>G (p.Arg579Gly)
c.1693C>G (p.Arg565Gly)
n.216-673G>C
c.1804C>G (p.Arg602Gly)
n.284-673G>C
Xg.47206023C>TCA412801532UBA1c.1651C>T (p.Arg551Cys)
n.465-55C>T
c.1669C>T (p.Arg557Cys)
c.1735C>T (p.Arg579Cys)
c.1693C>T (p.Arg565Cys)
n.216-673G>A
c.1804C>T (p.Arg602Cys)
n.284-673G>A
 dbSNP gnomAD v2 gnomAD v4
Xg.47206024G>ACA412801536UBA1c.1652G>A (p.Arg551His)
n.465-54G>A
c.1670G>A (p.Arg557His)
c.1736G>A (p.Arg579His)
c.1694G>A (p.Arg565His)
n.216-674C>T
c.1805G>A (p.Arg602His)
n.284-674C>T
 ClinVar gnomAD v4
Xg.47206024G>CCA412801541UBA1c.1652G>C (p.Arg551Pro)
n.465-54G>C
c.1670G>C (p.Arg557Pro)
c.1736G>C (p.Arg579Pro)
c.1694G>C (p.Arg565Pro)
n.216-674C>G
c.1805G>C (p.Arg602Pro)
n.284-674C>G
Xg.47206024G>TCA412801544UBA1c.1652G>T (p.Arg551Leu)
n.465-54G>T
c.1670G>T (p.Arg557Leu)
c.1736G>T (p.Arg579Leu)
c.1694G>T (p.Arg565Leu)
n.216-674C>A
c.1805G>T (p.Arg602Leu)
n.284-674C>A
Xg.47206025T>ACA516351774UBA1c.1653T>A (p.Arg551=)
n.465-53T>A
c.1671T>A (p.Arg557=)
c.1737T>A (p.Arg579=)
c.1695T>A (p.Arg565=)
n.216-675A>T
c.1806T>A (p.Arg602=)
n.284-675A>T
Xg.47206025T>CCA516351772UBA1c.1653T>C (p.Arg551=)
n.465-53T>C
c.1671T>C (p.Arg557=)
c.1737T>C (p.Arg579=)
c.1695T>C (p.Arg565=)
n.216-675A>G
c.1806T>C (p.Arg602=)
n.284-675A>G
Xg.47206025T>GCA516351771UBA1c.1653T>G (p.Arg551=)
n.465-53T>G
c.1671T>G (p.Arg557=)
c.1737T>G (p.Arg579=)
c.1695T>G (p.Arg565=)
n.216-675A>C
c.1806T>G (p.Arg602=)
n.284-675A>C
Xg.47206026G>ACA412801546UBA1c.1654G>A (p.Val552Met)
n.465-52G>A
c.1672G>A (p.Val558Met)
c.1738G>A (p.Val580Met)
c.1696G>A (p.Val566Met)
n.216-676C>T
c.1807G>A (p.Val603Met)
n.284-676C>T
 gnomAD v4
Xg.47206026G>CCA412801553UBA1c.1654G>C (p.Val552Leu)
n.465-52G>C
c.1672G>C (p.Val558Leu)
c.1738G>C (p.Val580Leu)
c.1696G>C (p.Val566Leu)
n.216-676C>G
c.1807G>C (p.Val603Leu)
n.284-676C>G
Xg.47206026G>TCA412801556UBA1c.1654G>T (p.Val552Leu)
n.465-52G>T
c.1672G>T (p.Val558Leu)
c.1738G>T (p.Val580Leu)
c.1696G>T (p.Val566Leu)
n.216-676C>A
c.1807G>T (p.Val603Leu)
n.284-676C>A
Xg.47206027T>ACA412801574UBA1c.1655T>A (p.Val552Glu)
n.465-51T>A
c.1673T>A (p.Val558Glu)
c.1739T>A (p.Val580Glu)
c.1697T>A (p.Val566Glu)
n.216-677A>T
c.1808T>A (p.Val603Glu)
n.284-677A>T
Xg.47206027T>CCA412801577UBA1c.1655T>C (p.Val552Ala)
n.465-51T>C
c.1673T>C (p.Val558Ala)
c.1739T>C (p.Val580Ala)
c.1697T>C (p.Val566Ala)
n.216-677A>G
c.1808T>C (p.Val603Ala)
n.284-677A>G
Xg.47206027T>GCA412801562UBA1c.1655T>G (p.Val552Gly)
n.465-51T>G
c.1673T>G (p.Val558Gly)
c.1739T>G (p.Val580Gly)
c.1697T>G (p.Val566Gly)
n.216-677A>C
c.1808T>G (p.Val603Gly)
n.284-677A>C
Xg.47206028G>ACA516351776UBA1c.1656G>A (p.Val552=)
n.465-50G>A
c.1674G>A (p.Val558=)
c.1740G>A (p.Val580=)
c.1698G>A (p.Val566=)
n.216-678C>T
c.1809G>A (p.Val603=)
n.284-678C>T

Number of alleles fetched